254189001: Generalized recessive dystrophic epidermolysis bullosa mitis (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Skin AND/OR mucosa finding (finding)\Skin finding (finding)\Disorder of skin (disorder)\...

\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\...

\Generalized dystrophic epidermolysis bullosa\Generalized recessive dystrophic epidermolysis bullosa mitis

\Recessive dystrophic epidermolysis bullosa\Generalized recessive dystrophic epidermolysis bullosa mitis

\Congenital anomaly of skin\Genodermatosis (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\...

\Generalized dystrophic epidermolysis bullosa\Generalized recessive dystrophic epidermolysis bullosa mitis

\Recessive dystrophic epidermolysis bullosa\Generalized recessive dystrophic epidermolysis bullosa mitis

\General finding of soft tissue\Skin finding (finding)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Generalized recessive dystrophic epidermolysis bullosa mitis
\General finding of soft tissue\Skin finding (finding)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Generalized recessive dystrophic epidermolysis bullosa mitis
\General finding of soft tissue\Skin finding (finding)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Generalized recessive dystrophic epidermolysis bullosa mitis
\General finding of soft tissue\Skin finding (finding)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Generalized recessive dystrophic epidermolysis bullosa mitis
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Generalized recessive dystrophic epidermolysis bullosa mitis
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Generalized recessive dystrophic epidermolysis bullosa mitis
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Generalized recessive dystrophic epidermolysis bullosa mitis
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Generalized recessive dystrophic epidermolysis bullosa mitis

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Generalized recessive dystrophic epidermolysis bullosa mitis
\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Generalized recessive dystrophic epidermolysis bullosa mitis
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Generalized recessive dystrophic epidermolysis bullosa mitis
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Generalized recessive dystrophic epidermolysis bullosa mitis
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Generalized recessive dystrophic epidermolysis bullosa mitis
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Generalized recessive dystrophic epidermolysis bullosa mitis
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Generalized recessive dystrophic epidermolysis bullosa mitis
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Generalized recessive dystrophic epidermolysis bullosa mitis
\Integumentary system finding\Skin finding (finding)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Generalized recessive dystrophic epidermolysis bullosa mitis
\Integumentary system finding\Skin finding (finding)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Generalized recessive dystrophic epidermolysis bullosa mitis
\Integumentary system finding\Skin finding (finding)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Generalized recessive dystrophic epidermolysis bullosa mitis
\Integumentary system finding\Skin finding (finding)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Generalized recessive dystrophic epidermolysis bullosa mitis

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Generalized recessive dystrophic epidermolysis bullosa mitis
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Generalized recessive dystrophic epidermolysis bullosa mitis
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Generalized recessive dystrophic epidermolysis bullosa mitis
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Generalized recessive dystrophic epidermolysis bullosa mitis
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Recessive dystrophic epidermolysis bullosa\Generalized recessive dystrophic epidermolysis bullosa mitis
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Generalized recessive dystrophic epidermolysis bullosa mitis
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Generalized recessive dystrophic epidermolysis bullosa mitis
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Generalized recessive dystrophic epidermolysis bullosa mitis
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Generalized recessive dystrophic epidermolysis bullosa mitis
\Disease\Degenerative disorder\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Generalized recessive dystrophic epidermolysis bullosa mitis
\Disease\Degenerative disorder\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Generalized recessive dystrophic epidermolysis bullosa mitis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Generalized recessive dystrophic epidermolysis bullosa mitis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Generalized recessive dystrophic epidermolysis bullosa mitis
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Generalized recessive dystrophic epidermolysis bullosa mitis
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Generalized recessive dystrophic epidermolysis bullosa mitis
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Generalized recessive dystrophic epidermolysis bullosa mitis
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Generalized recessive dystrophic epidermolysis bullosa mitis
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Generalized recessive dystrophic epidermolysis bullosa mitis
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Generalized recessive dystrophic epidermolysis bullosa mitis
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Generalized recessive dystrophic epidermolysis bullosa mitis
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Generalized recessive dystrophic epidermolysis bullosa mitis
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Generalized recessive dystrophic epidermolysis bullosa mitis
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Generalized recessive dystrophic epidermolysis bullosa mitis
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Generalized recessive dystrophic epidermolysis bullosa mitis
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Generalized recessive dystrophic epidermolysis bullosa mitis
\Disease\Developmental disorder\Developmental hereditary disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Generalized recessive dystrophic epidermolysis bullosa mitis
\Disease\Developmental disorder\Developmental hereditary disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Generalized recessive dystrophic epidermolysis bullosa mitis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Generalized recessive dystrophic epidermolysis bullosa mitis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Generalized recessive dystrophic epidermolysis bullosa mitis

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

378384013 Generalised recessive dystrophic epidermolysis bullosa mitis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

378385014 Generalized recessive dystrophic epidermolysis bullosa mitis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

645045013 Generalized recessive dystrophic epidermolysis bullosa mitis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1715741000005117 generaliseret recessiv dystrofisk mild bulløs epidermolyse da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Generalized recessive dystrophic epidermolysis bullosa mitis	Is a	Generalized dystrophic epidermolysis bullosa	true	Inferred relationship	Some
Generalized recessive dystrophic epidermolysis bullosa mitis	Is a	Recessive dystrophic epidermolysis bullosa	true	Inferred relationship	Some
Generalized recessive dystrophic epidermolysis bullosa mitis	Associated morphology	A fluid-filled, raised, often translucent lesion, greater than 1 cm in diameter	false	Inferred relationship	Some	1
Generalized recessive dystrophic epidermolysis bullosa mitis	Associated morphology	Epidermolysis	false	Inferred relationship	Some	2
Generalized recessive dystrophic epidermolysis bullosa mitis	Associated morphology	Keratolysis	false	Inferred relationship	Some	1
Generalized recessive dystrophic epidermolysis bullosa mitis	Finding site	Skin structure	true	Inferred relationship	Some	1
Generalized recessive dystrophic epidermolysis bullosa mitis	Finding site	Connective tissue (substance)	false	Inferred relationship	Some
Generalized recessive dystrophic epidermolysis bullosa mitis	Occurrence	Congenital	false	Inferred relationship	Some
Generalized recessive dystrophic epidermolysis bullosa mitis	Finding site	Connective tissue structure	false	Inferred relationship	Some
Generalized recessive dystrophic epidermolysis bullosa mitis	Finding site	Structure of musculoskeletal system (body structure)	false	Inferred relationship	Some
Generalized recessive dystrophic epidermolysis bullosa mitis	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Generalized recessive dystrophic epidermolysis bullosa mitis	Finding site	Skin structure	false	Inferred relationship	Some	2
Generalized recessive dystrophic epidermolysis bullosa mitis	Finding site	Skin structure	false	Inferred relationship	Some	1
Generalized recessive dystrophic epidermolysis bullosa mitis	Finding site	Skin structure	false	Inferred relationship	Some	2
Generalized recessive dystrophic epidermolysis bullosa mitis	Finding site	Skin structure	false	Inferred relationship	Some	1
Generalized recessive dystrophic epidermolysis bullosa mitis	Finding site	Skin structure	false	Inferred relationship	Some	2
Generalized recessive dystrophic epidermolysis bullosa mitis	Finding site	Skin structure	false	Inferred relationship	Some	1
Generalized recessive dystrophic epidermolysis bullosa mitis	Finding site	Skin structure	false	Inferred relationship	Some	2
Generalized recessive dystrophic epidermolysis bullosa mitis	Finding site	Skin structure	false	Inferred relationship	Some	1
Generalized recessive dystrophic epidermolysis bullosa mitis	Finding site	Skin structure	false	Inferred relationship	Some	2
Generalized recessive dystrophic epidermolysis bullosa mitis	Finding site	Skin structure	false	Inferred relationship	Some	1
Generalized recessive dystrophic epidermolysis bullosa mitis	Finding site	Skin structure	false	Inferred relationship	Some	2
Generalized recessive dystrophic epidermolysis bullosa mitis	Occurrence	Congenital	false	Inferred relationship	Some	3
Generalized recessive dystrophic epidermolysis bullosa mitis	Associated morphology	dysgenese	false	Inferred relationship	Some	3
Generalized recessive dystrophic epidermolysis bullosa mitis	Finding site	Skin structure	false	Inferred relationship	Some	3
Generalized recessive dystrophic epidermolysis bullosa mitis	Associated morphology	Epidermolysis	true	Inferred relationship	Some	1
Generalized recessive dystrophic epidermolysis bullosa mitis	Occurrence	Congenital	true	Inferred relationship	Some	1
Generalized recessive dystrophic epidermolysis bullosa mitis	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
378384013	Generalised recessive dystrophic epidermolysis bullosa mitis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
378385014	Generalized recessive dystrophic epidermolysis bullosa mitis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
645045013	Generalized recessive dystrophic epidermolysis bullosa mitis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1715741000005117	generaliseret recessiv dystrofisk mild bulløs epidermolyse	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)